Regulatory T-cell deficiency and immune dysregulation, polyendocrinopathy, enteropathy, X-linked–like disorder caused by loss-of-function mutations in LRBA
Background A number of heritable immune dysregulatory diseases result from defects
affecting regulatory T (Treg) cell development, function, or both. They include immune
dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome, which is caused
by mutations in forkhead box P3 (FOXP3), and IPEX-like disorders caused by mutations in IL-
2 receptor α (IL2RA), signal transducer and activator of transcription 5b (STAT5b), and
signal transducer and activator of transcription 1 (STAT1). However, the genetic defects …
affecting regulatory T (Treg) cell development, function, or both. They include immune
dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome, which is caused
by mutations in forkhead box P3 (FOXP3), and IPEX-like disorders caused by mutations in IL-
2 receptor α (IL2RA), signal transducer and activator of transcription 5b (STAT5b), and
signal transducer and activator of transcription 1 (STAT1). However, the genetic defects …